Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.K134N
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PHOX2B

NM_003924.4:p.K134N

Associated Papers

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.

Richardson R et al.

Journal of Medical Genetics, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."